Full data view for gene BRCA2

All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 10 c.1744A>C r.(?) p.Thr582Pro - Unknown - NA g.32907359A>C g.32333222A>C T582P - BRCA2_000064 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.1744A>C r.(?) p.Thr582Pro - Unknown - NA g.32907359A>C g.32333222A>C T582P - BRCA2_000064 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 10 c.1744A>C r.(?) p.(Thr582Pro) - Parent #1 - benign g.32907359A>C g.32333222A>C - - BRCA2_000064 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.0000224 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.1744A>C r.(?) p.(Thr582Pro) - Parent #1 - benign g.32907359A>C g.32333222A>C - - BRCA2_000064 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80358457 Germline - 65/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 65 Yukihide Momozawa
-/. 10 c.1744A>C r.(?) p.(Thr582Pro) - Parent #1 - benign g.32907359A>C g.32333222A>C - - BRCA2_000064 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80358457 Germline - 94/11214 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 94 Yukihide Momozawa
-/. - c.1744A>C r.(?) p.(Thr582Pro) - Parent #1 - benign g.32907359A>C g.32333222A>C - - BRCA2_000064 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80358457 Germline - 1/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 1 Yukihide Momozawa
-/. - c.1744A>C r.(?) p.(Thr582Pro) - Parent #1 - benign g.32907359A>C g.32333222A>C - - BRCA2_000064 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80358457 Germline - 84/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 84 Yukihide Momozawa
-?/. 10 c.1744A>C r.(?) p.(Thr582Pro) - Unknown - likely benign g.32907359A>C g.32333222A>C - - BRCA2_000064 - Journal: Gao 2020 as reported in: Yongtao Li 2014 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: Yongtao Li 2014 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
+?/. - c.1744A>C r.(?) p.(Thr582Pro) - Parent #1 - likely pathogenic g.32907359A>C g.32333222A>C - - BRCA2_000064 - PubMed: Arno 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease EG76;FamAPatII1 PubMed: Arno 2016 2-generation family, 1 affected, unaffected parents M no - Asia - - - - 1 Johan den Dunnen
?/. - c.1744A>C r.(?) p.(Thr582Pro) - Parent #1 - NA g.32907359A>C - chr13_32907359_A_C - BRCA2_000064 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 41/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 41 BRIDGES consortium
?/. - c.1744A>C r.(?) p.(Thr582Pro) - Parent #1 - NA g.32907359A>C - chr13_32907359_A_C - BRCA2_000064 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 32/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 32 BRIDGES consortium
-/. - c.1744A>C r.(?) p.(Thr582Pro) - Parent #1 - benign g.32907359A>C g.32333222A>C - - BRCA2_000064 - PubMed: Dong 2021 - rs80358457 Germline - 29/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 23F/6M F;M - China - - - - - 29 Johan den Dunnen
-/. - c.1744A>C r.(?) p.(Thr582Pro) - Unknown - benign g.32907359A>C - BRCA2(NM_000059.3):c.1744A>C (p.T582P) - BRCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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